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Detection of three novel mutations in two haemophilia A patients by rapid screening of whole essential region of factor VIII gene

✍ Scribed by Naylor, J.A.; Green, P.M.; Montandon, A.J.; Giannelli, F.; Rizza, C.R.


Book ID
123522935
Publisher
The Lancet
Year
1991
Tongue
English
Weight
919 KB
Volume
337
Category
Article
ISSN
0140-6736

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Mutational-screening in the factor VIII
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Hemophilia A is an X-linked bleeding disease caused by mutations in the coagulation factor VIII gene. The identification and characterization of pathogenic mutations allows the recognition of new mechanisms of functional disturbances of factor VIII. To screen for mutations exons 1-26 of the factor V